Gene Gene information from NCBI Gene database.
Entrez ID 8992
Gene name ATPase H+ transporting V0 subunit e1
Gene symbol ATP6V0E1
Synonyms (NCBI Gene)
ATP6HATP6V0EM9.2Vma21Vma21p
Chromosome 5
Chromosome location 5q35.1
Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sort
miRNA miRNA information provided by mirtarbase database.
436
miRTarBase ID miRNA Experiments Reference
MIRT003839 hsa-miR-124-3p MicroarrayqRT-PCR 16549876
MIRT003839 hsa-miR-124-3p Microarray 15685193
MIRT021775 hsa-miR-132-3p Microarray 17612493
MIRT003839 hsa-miR-124-3p qRT-PCR 16549876
MIRT024214 hsa-miR-218-5p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
CREB5 Activation 21132541
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005765 Component Lysosomal membrane TAS
GO:0006811 Process Monoatomic ion transport IEA
GO:0007035 Process Vacuolar acidification ISS
GO:0010008 Component Endosome membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603931 863 ENSG00000113732
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15342
Protein name V-type proton ATPase subunit e 1 (V-ATPase subunit e 1) (V-ATPase 9.2 kDa membrane accessory protein) (V-ATPase M9.2 subunit) (Vacuolar proton pump subunit e 1)
Protein function Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33065002). V-ATPase is responsibl
PDB 6WLW , 6WM2 , 6WM3 , 6WM4 , 7U4T , 7UNF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05493 ATP_synt_H 9 70 ATP synthase subunit H Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:17350184}.
Sequence
Sequence length 81
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Phagosome
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Human papillomavirus infection
Rheumatoid arthritis
  ROS and RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Amino acids regulate mTORC1
Ion channel transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 34177888 Associate
★☆☆☆☆
Found in Text Mining only